A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population

SummaryActivated protein C resistance (APCR) is the most common hereditary condition of thrombosis in Western countries. And it is significantly linked to a single nucleotide polymorphisms (SNPs) in the coagulation factor V gene that results in the mutations at R506, R306 and HR2 alleles. To determine the prevalence of APCR and its association with the factor V gene SNPs in Chinese Han thrombotic patients, we investigated a total of 346 Chinese thrombotic patients and 140 normal controls for APCR using the APTT-based assays, according to manufacturer’s instructions, APC ratio ≦2 indicated APC resistance. Mutations of factor V at R506, R306, HR2 allele were detected by PCRMnl/I, Bst/NI, Rsa/I digestion as described before respectively. The results showed that the incidence of APC resistance were 12.0% (12 of 100 cases) in acute cerebral thrombosis (ACT) patients (P <0.05), 13.5% (13 of 96 cases) in acute myocardial infarction (AMI) patients (P <0.05), 16.7% (10 of 60 cases) in deep venous thrombosis (DVT) patients (P <0.05), 15.6% (14 of 90 cases) in systemic lupus erythematosus (SLE) patients (P <0.05) and 5.0% (7 of 140 cases) in normal controls. APCR is associated with thrombotic events. But no factor V R506Q mutation (FV Leiden) was found in all 5 groups. Only one AMI patient and one DVT patient revealed heterozygous R306G mutation, which was confirmed by direct sequencing PCR products. Additionally, two SLE patients showed to be heterozygous HR2 allele for the first time in the Chinese Han population. We concluded that APC resistance in the Chinese Han population might not be associated with mutations of factor V at R506, R306 and HR2 polymorphisms. Some other factors might contribute to APC resistance in the Chinese Han population.

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Clinical Characteristics of SARS-CoV-2 Pneumonia Compared to Controls in Chinese Han Population

10.1101/2020.03.08.20031658 ◽

2020 ◽

Cited By ~ 11

Author(s):

Yang Xu ◽

Yi-rong Li ◽

Qiang Zeng ◽

Zhi-bing Lu ◽

Yong-zhe Li ◽

...

Keyword(s):

Mechanical Ventilation ◽

Clinical Characteristics ◽

Invasive Mechanical Ventilation ◽

Case Series ◽

Hospitalized Patients ◽

Chinese Han Population ◽

Common Symptom ◽

Chinese Han ◽

Han Population ◽

Normal Controls

AbstractBackgroundIn December 2019, novel coronavirus (SARS-CoV-2) infected pneumonia occurred in Wuhan, China. The number of cases has increased rapidly but information on the clinical characteristics of SARS-CoV-2 pneumonia without comorbidities compared to normal controls in Chinese Han population is limited. Our objective is to describe the epidemiological and clinical characteristics of SARS-CoV-2 pneumonia without comorbidities compared to normal controls in the Chinese Han population.MethodsRetrospective, multi-center case series of the 69 consecutive hospitalized patients with confirmed SARS-CoV-2 pneumonia, from February 7 to February 28, 2020; final date of follow-up was February 29, 2020.ResultsThe study population included 69 hospitalized patients with confirmed SARS-CoV-2 pneumonia without comorbidities and 14,117 normal controls. 50.7% patients were male and 49.3% were female; 1.5% patients were asymptomatic cases, 63.8% patients were mild cases, and 36.2% patients were severe or critical cases. Compared with mild patients (n=44), severe or critical patients (n=25) were significantly older (median age, 67 years [IQR, 58-79] vs. 49 years [IQR, 36-60]; p<0.01). Fever was present in 98.6% of the patients. The second most common symptom was cough (62.3%), fatigue (58.0%), sputum (39.1%), and headache (33.3%). The median incubation period was 4 days (IQR, 2 to 7). Leukocyte count was 74.1% of normal controls and lymphocyte count was 45.9% of normal controls. The phenomenon of lymphocyte depletion (PLD) observed in severe or critical cases in 100%. Levels of lactate dehydrogenase, D-dimer, procalcitonin, and interleukin-6 were showed significant differences between mild and severe or critical cases. Chest computed tomographic scans showed bilateral patchy patterns (49.3%), local patchy shadowing (29.0%), and ground glass opacity (21.7%). 7.3% patients were diagnosed ARDS, 7.3% patients were diagnosed acute cardiac injury (troponin I >28 pg/mL) and 4.4% patients were diagnosed fungal infections or shock. 4.3% patients have been discharged; 1.5% patient had died; 1.5% patient had recovery.ConclusionsIn this multicenter case series of 69 patients without comorbidities, the full spectrum of asymptomatic, mild, severe, and critical cases is described. 50.7% patients were male and 49.3% were female; 1.5% patients were asymptomatic cases, 63.8% patients were mild cases, and 36.2% patients were severe or critical cases. 4.3% patients have been discharged; 1.5% patient had died; 1.5% patient had recovery. Among the 25 patients with severe or critical disease, 12.0% patients were underwent non-invasive mechanical ventilation, 8.0% patients underwent invasive mechanical ventilation, and 4.0% patients died.

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Evaluation of VEGFA gene variants for possible roles in cerebral infarction diseases

10.21203/rs.2.19207/v1 ◽

2019 ◽

Author(s):

Qiong Zhang ◽

Man Guo ◽

Chao Xu ◽

Hong Lei ◽

Jie Zhou ◽

...

Keyword(s):

Cerebral Infarction ◽

Chinese Han Population ◽

Vascular Endothelial ◽

Chinese Han ◽

Han Population ◽

Hardy Weinberg Equilibrium ◽

Spss Software ◽

Endothelial Growth Factor ◽

Vegfa Gene ◽

Normal Controls

Abstract Background: Cerebral infarction is one of the most common cerebral small vessel diseases. Many angiogenesis relevanted factors have special roles on the diseases pathogenesis. The vascular endothelial growth factor A (VEGFA) is the most prominent stimulating molecule factor for angiogenesis. So, we want to evaluate the correlation between VEGFA gene and this disease in this work. Methods: The VEGFA gene was sequenced for 400 cerebral infarction patients and 600 normal controls. SPSS software (version 19.0), Plink (version 1.9), Haploview software and online software SNPSpD were used for the statistical analyses and Hardy-Weinberg equilibrium tests. Results: We found variants rs10434, rs3025040, rs185218985, rs199971699, rs574579489, rs735286 and rs833061 within or near the VEGFA gene. The genetic heterozygosity of rs10434, rs3025040, rs735286 and rs833061 was very high. Statistical analysis showed that the variants rs10434 (P=0.041) and rs735286 (P=0.034) in the gene were associated with the risk of cerebral infarction diseases in the Chinese Han population. Conclusions: VEGFA variants rs10434 and rs735286 were associated with the risk of cerebral infarction diseases in the Chinese Han population.

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No association between polymorphisms in three genes of cytochrome p450 family and paranoid schizophrenia in northern Chinese Han population

European Psychiatry ◽

10.1016/j.eurpsy.2004.04.017 ◽

2004 ◽

Vol 19 (6) ◽

pp. 374-376 ◽

Cited By ~ 5

Author(s):

Yanbin Jia ◽

Xin Yu ◽

Boyu Zhang ◽

Yanbo Yuan ◽

Qi Xu ◽

...

Keyword(s):

Cytochrome P450 ◽

Paranoid Schizophrenia ◽

Han Chinese ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Genotype Frequencies ◽

Northern Chinese ◽

Cytochrome P450 Family ◽

Normal Controls

AbstractWe genotyped six SNPs in the genes of p450 family among paranoid schizophrenics and normal controls. All subjects are unrelated Han Chinese. Three showed polymorphic, and no significant differences in allele or genotype frequencies were detected between patients and controls. Thus we obtained no evidence for the involvement of the polymorphisms in paranoid schizophrenia in the population investigated.

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Mortality of COVID-19 is Associated with Cellular Immune Function Compared to Immune Function in Chinese Han Population

10.1101/2020.03.08.20031229 ◽

2020 ◽

Cited By ~ 17

Author(s):

Qiang Zeng ◽

Yong-zhe Li ◽

Gang Huang ◽

Wei Wu ◽

Sheng-yong Dong ◽

...

Keyword(s):

Immune Function ◽

Clinical Characteristics ◽

Chinese Han Population ◽

Common Symptom ◽

Reference Ranges ◽

Chinese Han ◽

Han Population ◽

Cellular Immune Function ◽

Cellular Immune ◽

Normal Controls

AbstractIn December 2019, novel coronavirus (SARS-CoV-2) infected pneumonia occurred in Wuhan, China. The number of cases has increased rapidly but information on the clinical characteristics of SARS-CoV-2 pneumonia compared to normal controls in Chinese Han population is limited. Our objective is to describe the clinical characteristics of SARS-CoV-2 pneumonia compared to normal controls in the Chinese Han population. In this case series of 752 patients, the full spectrum of cases is described. Fever was present in 86-90% of the patients. The second most common symptom was cough (49.1-51.0%), fatigue (25.2-27.1%), sputum (20.0-23.1%), and headache (9.8-11.1%). the mortality rate is 4.6% in Wuhan, 1.9% in Beijing, and 0.9% in Shanghai. Our findings showed that the levels of lymphocytes were 0.8(IQR, 0.6-1.1)109/L in Wuhan, 1.0(IQR, 0.7-1.4)109/L in Beijing, and 1.1 (IQR, 0.8-1.5) 109/L in Shanghai before admission to hospitals, respectively, indicating that cellular immune function might relate to the mortality. Based on the reference ranges of normal Chinese Han population and the data of the critically ill patients we have observed, it is recommended that reference ranges of people at high risk of COVID-19 infection are CD3+ lymphocytes below 900 cells/mm3, CD4+ lymphocytes below 500 cells/mm3, and CD8+ lymphocytes below 300 cells/mm3.

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